Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies (Rodriguez-Soriano, Pediatr. Nephrol. 12, 315-327 (1998)). Bartter's Syndrome, also known as is hypokalemic alkalosis with hypercalciuria, is a rare inherited disorder characterized by growth deficiency, potentially resulting in short stature; muscle weakness; cramps; and/or loss of potassium from the kidneys (renal potassium wasting). In some cases, affected individuals may exhibit mental retardation. Individuals with Bartter's Syndrome have a disturbance in their acid-base ratio (i.e., an accumulation of base or loss of acid) associated with a loss of potassium (hypokalemic alkalosis). Low amounts of potassium may result from overproduction of a certain hormone (aldosterone) that is essential in controlling blood pressure and regulating sodium and potassium levels (hyperaldosteronism).
There is no cure for Bartter's syndrome. The treatments consist of supplements to replace what is lost and medications to prevent urinary wasting of potassium and magnesium. In younger children growth hormone may be used to prevent the short stature and prostaglandin inhibitors to decrease the elevated prostaglandin levels. Treatments include potassium chloride supplements, magnesium supplements, spironolactone amilioride, triamterene, indomethacin, captopril, and growth hormone.
The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with Classic Bartter Syndrome may improve growth and perhaps neurointellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease (Kidney failure).
Clearly there is a great need for identification of the molecular basis of Bartter's syndrome, as well as for improved diagnostics and treatments for Bartter's syndrome.